Chen, 2015: Overview of all reported MxMD-ADCY5 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
0
22
No
Myoclonus
Dyskinesia
Paroxysmal dyskinesia
Motor delay
Cerebellar signs
Chorea
-Motor
Dysarthria
Facial twitches
Axial hypotonia
Show more (+7)
n.a.
Yes
n.a.
n.a.
1
9
No
Seizures
Gait impairment
Myoclonus
Motor delay
Delayed gross motor development
Dysarthria
Axial hypotonia
Dyskinesia
Hyperreflexia
-Motor
Show more (+7)
n.a.
No
C
USA
5
42
Yes
-Motor
Dyskinesia
Trigger: Anxiety
Chorea
Tremor (any or unspecified)
Postural tremor
Show more (+3)
n.a.
Yes
n.a.
n.a.
1
14
No
Axial hypotonia
Facial twitches
Myoclonus
Cognitive impairment
Hyperreflexia
Chorea
Dyskinesia
-Motor
Cerebellar signs
Dysarthria
Show more (+7)
n.a.
Yes
n.a.
n.a.
0
29
No
Dysarthria
-Motor
Myoclonus
Cerebellar signs
Axial hypotonia
Dyskinesia
Show more (+3)
n.a.
No
C
USA
3
71
Yes
Cognitive impairment
-Motor
Chorea
Dyskinesia
Show more (+1)
n.a.
Yes
n.a.
n.a.
n.a.
42
No
Facial twitches
Hyperreflexia
Chorea
Dyskinesia
-Motor
Show more (+2)
n.a.
No
n.a.
n.a.
n.a.
8
Yes
Dystonia, axial
Motor delay
-Motor
Dystonia, limb
Muscular hypotonia
Dyskinesia
Gait impairment
Axial hypotonia
Show more (+5)
n.a.
Yes
n.a.
n.a.
1
68
Yes
-Motor
Paroxysmal dyskinesia
Trigger: Anxiety
Chorea
Dyskinesia
Dystonia, axial
Show more (+3)
n.a.
Yes
n.a.
n.a.
2
13
No
Cognitive impairment
Dyskinesia
-Motor
Chorea
Show more (+1)
n.a.